Genetic variation

Tissue-based functional genomics resources including molecular quantitative trait loci datasets lack diversity in ancestry and tissue types and thus are inadequate for comprehensively investigating gene regulation. Global efforts to increase the tissue diversity will help achieve more equitable medical care.

New research has identified a novel, de novo mutation in the TLR7 gene that increases the affinity of TLR7 for guanosine, leading to TLR7 overactivation and child-onset systemic lupus erthematosus.

In this Journal Club, Ambroise Wonkam describes how whole-exome sequencing of genetically diverse populations of African ancestry can provide insights into both complex and Mendelian disease.

Evolutionary trees link ancient and modern human genomes.

In this Journal Club, Yukinori Okada recalls a 1987 publication that introduced a simple conceptual framework, the shared epitope hypothesis, to explain the genetic risk of rheumatoid arthritis conferred by HLA-DRB1 alleles.

Irene Gallego Romero recalls a landmark publication by Rosenberg et al., which reported on the fine-scale structure within and between human populations.